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STRs in panel
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Cardiomyopathies - including childhood onset

Gene: CTF1

Red List (low evidence)

CTF1 (cardiotrophin 1)
EnsemblGeneIds (GRCh38): ENSG00000150281
EnsemblGeneIds (GRCh37): ENSG00000150281
OMIM: 600435, Gene2Phenotype
CTF1 is in 2 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

Rebecca Whittington (South West GLH)

Red List (low evidence)

Phenotype not listed on OMIM. DCM
Created: 25 Mar 2019, 4:30 p.m.
Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.
Created: 25 Mar 2019, 4:27 p.m.

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • South West GLH
  • Expert Review Red
OMIM
600435
Clinvar variants
Variants in CTF1
Penetrance
None
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CTF1.

4 Sep 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: CTF1 was added gene: CTF1 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: CTF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown